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Nicholas Pachter

Dr

  • The University of Western Australia (M503), 35 Stirling Highway,

    6009 Perth

    Australia

  • 193 Citations
  • 8 h-Index
20142019
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  • 11 Similar Profiles
Western Australia Medicine & Life Sciences
Genetic Counseling Medicine & Life Sciences
Germ-Line Mutation Medicine & Life Sciences
Genetic Testing Medicine & Life Sciences
Genetic Services Medicine & Life Sciences
Rare Diseases Medicine & Life Sciences
Hereditary Nonpolyposis Colorectal Neoplasms Medicine & Life Sciences
Public Health Medicine & Life Sciences

Network Recent external collaboration on country level. Dive into details by clicking on the dots.

Research Output 2014 2019

  • 193 Citations
  • 8 h-Index
  • 23 Article
  • 3 Review article
  • 2 Chapter
  • 1 Abstract/Meeting Abstract
2 Citations (Scopus)

Genomic testing for human health and disease across the life cycle: Applications and ethical, legal, and social challenges

Bilkey, G. A., Burns, B. L., Coles, E. P., Bowman, F. L., Beilby, J. P., Pachter, N. S., Baynam, G., S. Dawkins, H. J., Nowak, K. J. & Weeramanthri, T. S., 11 Mar 2019, In : Frontiers in Public Health. 7, MAR, 40.

Research output: Contribution to journal › Review article

Open Access
Life Cycle Stages
Delivery of Health Care
Health
Technology
Informed Consent
2 Citations (Scopus)

Healthcare system priorities for successful integration of genomics: An Australian focus

Burns, B. L., Bilkey, G. A., Coles, E. P., Bowman, F. L., Beilby, J. P., Pachter, N. S., Baynam, G., Dawkins, H. J. S., Weeramanthri, T. S. & Nowak, K. J., 11 Mar 2019, In : Frontiers in Public Health. 7, 41.

Research output: Contribution to journal › Review article

Open Access
Genomics
Technology
Delivery of Health Care
Health Policy
Lenses

Homologous recombination DNA repair defects in PALB2-associated breast cancers

kConFab Investigators & Cohen, P., 8 Aug 2019, In : npj Breast Cancer. 5, 1, 23.

Research output: Contribution to journal › Article

Open Access
Recombinational DNA Repair
Breast Neoplasms
Loss of Heterozygosity
Homologous Recombination
Alleles
1 Citation (Scopus)

Identification of clinically actionable variants from genome sequencing of families with congenital heart disease

Alankarage, D., Ip, E., Szot, J. O., Munro, J., Blue, G. M., Harrison, K., Cuny, H., Enriquez, A., Troup, M., Humphreys, D. T., Wilson, M., Harvey, R. P., Sholler, G. F., Graham, R. M., Ho, J. W. K., Kirk, E. P., Pachter, N., Chapman, G., Winlaw, D. S., Giannoulatou, E. & 1 othersDunwoodie, S. L., 1 May 2019, In : Genetics in Medicine. 21, 5, p. 1111-1120 10 p.

Research output: Contribution to journal › Article

Heart Diseases
Genome
Genes
Biomedical Technology Assessment
Molecular Pathology

Incidence of germline BRCA1/2 mutations in women with tubo-ovarian high-grade serous carcinomas with and without serous tubal intra-epithelial carcinomas

Dowson, C. B., Stewart, C., O'Sullivan, S., Pachter, N., Schofield, L. & Cohen, P. A., 7 Nov 2019, In : International Journal of Gynecologic Cancer. 000540.

Research output: Contribution to journal › Article

Carcinoma
Mutation
Incidence
Genetic Counseling
Genetic Testing

Projects 2015 2016

Genome-wide methylation profiling in infants with and without congenital heart defects

Pachter, N., Goldblatt, J. & Zhang, B.

Perth Children’s Hospital

1/01/15 → 31/12/16

Project: Research